MPS III D, also known as Sanfilippo syndrome type D, is a rare genetic disorder that belongs to a group of conditions called mucopolysaccharidoses (MPS). It is an autosomal recessive disorder, meaning both parents must carry the mutated gene for their child to inherit the condition.
MPS III D is caused by a deficiency or malfunctioning of an enzyme called N-sulfoglucosamine sulfohydrolase, or sulfamidase. The lack of this enzyme results in the accumulation of mucopolysaccharides, specifically heparan sulfate, in various tissues and organs of the body. Over time, this excess buildup leads to progressive and irreversible damage.
Individuals with MPS III D typically begin experiencing symptoms during early childhood. These symptoms include developmental delays, intellectual impairment, speech problems, hyperactivity, and behavioral difficulties. Physical manifestations of the condition may include facial dysmorphism, joint stiffness, skeletal abnormalities, and organ enlargement.
Unfortunately, MPS III D has no cure and treatment options focus on managing the symptoms and improving the quality of life for affected individuals. This may involve different types of therapies, such as speech therapy, physical therapy, occupational therapy, and behavioral interventions. Additionally, palliative care is often provided to help manage associated health issues and maximize comfort.
The prognosis for individuals with MPS III D is generally poor, as the condition progressively worsens over time. Life expectancy is often reduced, with most affected individuals not surviving beyond the second or third decade of life.
